87 citations
,
March 2013 in “Expert Review of Anticancer Therapy” Afatinib often causes skin problems that need proactive management.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
11 citations
,
October 2003 in “Postgraduate Medical Journal” Doctors often diagnose Cushing's syndrome late, which worsens symptoms; earlier detection is needed.
1 citations
,
April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
44 citations
,
November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
February 2009 in “Journal of The American Academy of Dermatology” A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
30 citations
,
December 2017 in “Journal of The American Academy of Dermatology” New criteria for diagnosing frontal fibrosing alopecia include specific scalp and eyebrow hair loss as major factors and other hair loss areas and hair analysis as minor factors.
22 citations
,
March 2018 in “International Ophthalmology” Taking tamsulosin or finasteride and being older increase the risk of floppy iris during cataract surgery.
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
2 citations
,
June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
20 citations
,
January 2016 in “Intractable & Rare Diseases Research” Combination therapy, especially with finasteride, is effective for treating frontal fibrosing alopecia.
13 citations
,
July 2016 in “Pediatric Dermatology” Loose Anagen Syndrome is more common in females and may be inherited, often confused with other hair disorders, and lacks evidence for biotin treatment effectiveness.
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
4 citations
,
August 2018 in “Journal of pediatric neurology” Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
7 citations
,
January 2016 in “Case reports in pediatrics” A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
April 2019 in “Journal of the Endocrine Society” Rapid virilization should be checked for possible ovarian or adrenal cancer.
August 2013 in “Acta Ophthalmologica” Certain medications, hypertension, and short eye length increase the risk of Intraoperative Floppy Iris Syndrome during cataract surgery.
January 2022 in “Clinical dermatology review” A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
28 citations
,
February 2020 in “Clinical Ophthalmology” Certain medications and patient factors increase the risk of Intraoperative Floppy Iris Syndrome during cataract surgery, but with careful planning and technique adjustments, complications can be minimized.
7 citations
,
August 2019 in “American Journal of Dermatopathology” Frontal fibrosing alopecia on limbs shows permanent inflammatory hair loss, not typical scarring.
June 2022 in “Revista del Hospital Italiano de Buenos Aires” A rare case of a man having both frontal fibrosing alopecia and vitiligo was reported.
54 citations
,
January 1983 in “Archives of Dermatology” KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
4 citations
,
April 2019 in “DOAJ (DOAJ: Directory of Open Access Journals)” 5-α-reductase inhibitors, intralesional steroids, and hydroxychloroquine are the most effective treatments for frontal fibrosing alopecia.
2 citations
,
April 2023 in “Cutis” More inclusive research is needed to effectively treat frontal fibrosing alopecia in Black patients.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
4 citations
,
January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
September 2018 in “The Journal of Urology”